Sugi Variant

Sugi Variant/GNAT2

GNAT2 — 282 ClinVar variants

All ClinVar germline GNAT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

21 Pathogenic · 3 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 16 Conflicting · 2 Benign · 2 Benign/Likely benign · 84 Likely benign · 136 Uncertain significance

Full GNAT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 118

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 7

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 89

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 22

The independent predictors disagree with each other — read with care.

All GNAT2 variants

Pathogenic 21

Pathogenic/Likely pathogenic 3

  • p.Arg105Ter Multiple submitters GNAT2-related disorder
  • p.Gln58Ter Multiple submitters GNAT2-related disorder
  • p.Glu276fs Multiple submitters GNAT2-related disorder

Likely pathogenic 18

Conflicting classifications of pathogenicity 16

Benign 2

Benign/Likely benign 2

  • p.Ile49= Multiple submitters achromatopsia 4
  • p.Leu123= Multiple submitters achromatopsia 4

Likely benign 84

Uncertain significance 136